NM_000020.2(ACVRL1):c.1348A>G (p.Thr450Ala) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Nov 29, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000413333.1

Allele description [Variation Report for NM_000020.2(ACVRL1):c.1348A>G (p.Thr450Ala)]

NM_000020.2(ACVRL1):c.1348A>G (p.Thr450Ala)

Gene:
ACVRL1:activin A receptor like type 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_000020.2(ACVRL1):c.1348A>G (p.Thr450Ala)
HGVS:
  • NC_000012.12:g.51919086A>G
  • NG_009549.1:g.16669A>G
  • NM_000020.2:c.1348A>G
  • NM_001077401.2:c.1348A>G
  • NP_000011.2:p.Thr450Ala
  • NP_001070869.1:p.Thr450Ala
  • LRG_543t1:c.1348A>G
  • LRG_543:g.16669A>G
  • LRG_543p1:p.Thr450Ala
  • NC_000012.11:g.52312870A>G
Protein change:
T450A
Links:
dbSNP: rs146206499
NCBI 1000 Genomes Browser:
rs146206499
Molecular consequence:
  • NM_000020.2:c.1348A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077401.2:c.1348A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000492219GeneDxcriteria provided, single submitter
Uncertain significance
(Nov 29, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000492219.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

A variant of uncertain significance has been identified in the ACVRL1 gene. The T450A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The T450A variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where only amino acids with similar properties to Threonine are tolerated across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Furthermore, the Exome Aggregation Consortium (ExAC) reports T450A was observed in 30/66,722 (0.05%) alleles from individuals of Non-Finnish European background.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2021

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